|Institutional Source||Beutler Lab|
|Gene Name||proline-serine-threonine phosphatase-interacting protein 1|
|Is this an essential gene?||Probably non essential (E-score: 0.117)|
|Stock #||R7107 (G1)|
|Chromosomal Location||56089962-56128888 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 56128650 bp|
|Amino Acid Change||Aspartic acid to Valine at position 393 (D393V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055823 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059206]|
|Predicted Effect||probably damaging
AA Change: D393V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D393V
|Meta Mutation Damage Score||0.6588|
|Coding Region Coverage||
|Validation Efficiency||99% (78/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is highly expressed in hemopoietic tissues. This protein functions via its interaction with several different proteins involved in cytoskeletal organization and inflammatory processes. It binds to the cytoplasmic tail of CD2, an effector of T cell activation and adhesion, downregulating CD2-triggered adhesion. It binds PEST-type protein tyrosine phosphatases (PTP) and directs them to c-Abl kinase to mediate c-Abl dephosphorylation, thereby, regulating c-Abl activity. It also interacts with pyrin, which is found in association with the cytoskeleton in myeloid/monocytic cells and modulates immunoregulatory functions. Mutations in this gene are associated with PAPA (pyogenic sterile arthritis, pyoderma gangrenosum, and acne) syndrome. It is hypothesized that the disease-causing mutations compromise physiologic signaling necessary for the maintenance of a proper inflammatory response. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defects in immune cells with T cell hyperresponsive to antigen receptor stimulation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pstpip1||
(F):5'- GCCTTAGCATGACTCAGCAG -3'
(R):5'- ATTGAGAGTAGCCAGCACCC -3'
(F):5'- TTAGCATGACTCAGCAGACTGC -3'
(R):5'- ATTCCCAGCACCACCGGG -3'